PMID- 10797426
OWN - NLM
STAT- MEDLINE
DCOM- 20000524
LR  - 20091119
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 92
IP  - 1
DP  - 2000 May 1
TI  - Mosaic tetrasomy 8q: inverted duplication of 8q23.3qter in an analphoid marker.
PG  - 69-76
AB  - We observed an analphoid marker chromosome stable through cell division in a 
      16-year-old girl with developmental delay, short stature, limb contractures, and 
      ovaries containing multiple cysts. She also developed myasthenia gravis at 15 
      years. The marker chromosome, present in 75% of metaphases (and in 90% of 
      transformed lymphoblastoid cells), was C-band negative, and had no pan 
      alpha-satellite sequences detectable by fluorescence in situ hybridization 
      (FISH). The 8q origin of the marker was determined by use of subtelomeric probes 
      and was confirmed by chromosome 8 painting probes. The marker was shown to be an 
      inversion duplication of 8q when subtelomeric, telomeric, and c-myc FISH probes 
      hybridized to both ends of the marker. The karyotype was 47,XX,+inv 
      dup(8)(qter--> q23.3::q23.3-->[neocen]-->qter), resulting in tetrasomy for 
      8q23.3qter. The parents had normal karyotypes. Centromeric proteins CENP-C and 
      CENP-E were present, but alpha associated centromere protein CENP-B was absent at 
      a position defining a neocentromere.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Reddy, K S
AU  - Reddy KS
AD  - Cytogenetics Laboratory, Quest Diagnostics Inc., San Juan Capistrano, California, 
      USA. reddyk@questdiagnostics.com
FAU - Sulcova, V
AU  - Sulcova V
FAU - Schwartz, S
AU  - Schwartz S
FAU - Noble, J E
AU  - Noble JE
FAU - Phillips, J
AU  - Phillips J
FAU - Brasel, J A
AU  - Brasel JA
FAU - Huff, K
AU  - Huff K
FAU - Lin, H J
AU  - Lin HJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Autoantigens)
RN  - 0 (CENPB protein, human)
RN  - 0 (Centromere Protein B)
RN  - 0 (Chromosomal Proteins, Non-Histone)
RN  - 0 (DNA, Satellite)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Genetic Markers)
RN  - 0 (centromere protein C)
RN  - 0 (centromere protein E)
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Adolescent
MH  - Adult
MH  - *Aneuploidy
MH  - *Autoantigens
MH  - Centromere/genetics
MH  - Centromere Protein B
MH  - Chromosomal Proteins, Non-Histone/genetics
MH  - Chromosome Banding
MH  - Chromosome Inversion
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - Contracture
MH  - DNA, Satellite
MH  - *DNA-Binding Proteins
MH  - Extremities
MH  - Female
MH  - Gene Duplication
MH  - Genetic Markers
MH  - Growth Disorders
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Mosaicism
MH  - Ovary/pathology
EDAT- 2000/05/08 09:00
MHDA- 2000/06/08 09:00
CRDT- 2000/05/08 09:00
PHST- 2000/05/08 09:00 [pubmed]
PHST- 2000/06/08 09:00 [medline]
PHST- 2000/05/08 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(20000501)92:1<69::AID-AJMG12>3.0.CO;2-O [pii]
PST - ppublish
SO  - Am J Med Genet. 2000 May 1;92(1):69-76.